Associated Papers
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J et al.
Bmc Pediatrics, 2023
37016333 (PubMed )
Supplement: 12887_2023_3972_MOESM1_ESM.xlsx › Sheet1
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D et al.
Genes, 2022
35052493 (PubMed )
Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › D_Genotype-Phenotype_comparison
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K et al.
Nature Communications, 2020
32103003 (PubMed )
Supplement: 41467_2020_14697_MOESM1_ESM.pdf
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF et al.
American Journal of Human Genetics, 2016
POGZ truncating alleles cause syndromic intellectual disability.
White J et al.
Genome Medicine, 2016
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